Pompe Disease clinical trials at University of California Health
8 in progress, 5 open to eligible people
Gene Transfer Study in Patients With Late Onset Pompe Disease
open to eligible people ages 18-80
This is a phase 1/2 open-label, ascending dose, multicenter clinical study to evaluate the safety and efficacy of AT845 in adult (aged ≥ 18 years) subjects, ambulatory or nonambulatory, with Late Onset Pompe Disease (LOPD).
at UC Irvine
In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases
open to eligible females ages 18-50
The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.
at UCSF
Global Prospective Observational Registry of Patients With Pompe Disease
open to all eligible people
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are: - To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients - To evaluate the long-term real-world effectiveness of Pompe disease treatments - To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs) - To describe the natural history of untreated Pompe disease
at UC Irvine
Pompe Disease Registry Protocol
open to all eligible people
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes. The objectives of the Registry are: - To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention. - To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. - To characterize the Pompe disease population. - To evaluate the long-term effectiveness of alglucosidase alfa.
at UC Davis UC Irvine UCSD UCSF
Registry of Patients Diagnosed With Lysosomal Storage Diseases
open to eligible people ages up to 64 years
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
at UCSF
Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
Sorry, in progress, not accepting new patients
The purpose of this study is to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease receiving enzyme replacement therapy (ERT). Participants will be treated in sequential, dose-level cohorts.
at UC Irvine
Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With LOPD
Sorry, in progress, not accepting new patients
This is a multicenter, international open-label extension study of ATB200/AT2221 in adult subjects with late-onset Pompe disease (LOPD) who completed Study ATB200-03.
at UC Irvine
ATB200/AT2221 for the Treatment of IOPD
Sorry, not accepting new patients
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
at UCSF
Our lead scientists for Pompe Disease research studies include Tippi Mackenzie Tahseen Mozaffar, MD.
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